Large-scale study of East Asian individuals reveals a number of previously overlooked genetic variants

Figure 1: Newly identified genetic variants could provide useful biomarkers for predicting and treating metabolic disorders in East Asian individuals. Credit: 2012 iStockphoto/bowdenimages

Broad, population-based investigations known as genome-wide association studies (GWAS) are now a standard tool for helping scientists to pinpoint genetic variations that can contribute to disease risk or pathology. However, most of the studies performed to date have focused predominantly on populations of European ancestry, and therefore ignore or overlook risk markers that specifically predominate among other ethnic groups. A recent GWAS from a large team of scientists based in Korea and Japan, including Yukinori Okada of the RIKEN Center for Genomic Medicine in Yokohama, has addressed this inequity by specifically seeking out factors that might contribute to metabolic disease in East Asians (Fig. 1).

In a GWAS, scientists analyze from large numbers of people who manifest a particular condition or trait of interest. They do this by seeking out small sequence changes known as single-nucleotide polymorphisms, or SNPs, that show a strong statistical association with the presence or absence of that particular trait. 

In an earlier study, Okada and colleagues analyzed more than 14,000 Japanese individuals and found several previously unidentified loci of interest. This time, they performed an initial analysis in over 12,000 Korean individuals, and then replicated apparent ‘hits’ in a far larger group of over 30,000 individuals from Japan, Korea and China. This increased scale gave the researchers the ability to identify rare but meaningful associations with greater confidence.

They focused on finding genetic variants associated with imbalances in blood sugar, cholesterol and other indicators of metabolic function. “The recent rise of prevalence of metabolic diseases like diabetes, hyperlipidemia and chronic renal disease is a serious medical problem,” says Okada, “and these types of studies have been mainly conducted in European populations, but there are few studies on Asians.”

The team’s investigation uncovered 33 SNPs associated with metabolic function, 10 of which were previously unidentified. One of these was closely linked with variability in blood sugar levels, although the same SNP showed no significant association with this metabolic trait in a northern European cohort. The researchers also identified a segment of chromosome 12 that appears to affect multiple metabolic phenotypes in both Europeans and East Asians; however, the specific sequence variations associated with these traits differ between the two populations.

Collectively, these data highlight the importance of expanding the breadth of GWAS analyses to cover the full spectrum of ethnic diversity. Okada and colleagues are planning to embark on an even larger-scale GWAS of East Asian populations in the near future. 

More information: Kim, Y.J. et al. Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits. Nature Genetics 43, 990–995 (2011).

Kamatani, Y., et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nature Genetics 42, 210–215 (2010). 

add to favorites email to friend print save as pdf

Related Stories

Different roads to diabetes

Nov 08, 2010

(PhysOrg.com) -- A specific genetic variant puts individuals of Asian ancestry at risk of developing diabetes -- but not their European counterparts.

Partners in inflammation

Mar 11, 2011

Individuals with increased levels of C-reactive protein (CRP) in the blood are at increased risk for various diseases linked to inflammation, such as colorectal cancer and cardiovascular diseases. Now, a research ...

Keeping an eye on the Japanese genome

Jan 13, 2012

Age-related macular degeneration (AMD) is a common disease that can result in blindness. It is caused by cell death in the eye’s retina, which is partly responsible for transforming visual stimuli into ...

Large meta-analysis finds new genes for type 1 diabetes

Sep 29, 2011

The largest-ever analysis of genetic data related to type 1 diabetes has uncovered new genes associated with the common metabolic disease, which affects 200 million people worldwide. The findings add to knowledge of gene ...

Recommended for you

Science of romantic relationships includes gene factor

23 hours ago

(Medical Xpress)—Adolescents worry about passing tests, winning games, lost phones, fractured bones—and whether or not they will ever really fall in love. Three Chinese researchers have focused on that ...

Stress reaction may be in your dad's DNA, study finds

Nov 21, 2014

Stress in this generation could mean resilience in the next, a new study suggests. Male mice subjected to unpredictable stressors produced offspring that showed more flexible coping strategies when under ...

More genetic clues found in a severe food allergy

Nov 21, 2014

Scientists have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE). Because the genes appear to have roles in other allergic diseases and in inflammation, the ...

Brain-dwelling worm in UK man's head sequenced

Nov 20, 2014

For the first time, the genome of a rarely seen tapeworm has been sequenced. The genetic information of this invasive parasite, which lived for four years in a UK resident's brain, offers new opportunities ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.